Gene Variant Detail

KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistant (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Mar 2019).

In a clinical study, KIT D816E and D820V were identified as secondary mutations in a patient with gastrointestinal stromal tumor who developed resistance to Gleevec (imatinib mesylate)(PMID: 18294292).